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GENATLAS PHENOTYPE
last update : 28-08-2009
Symbol MPS4B
Location 3p22.3
Name mucopolysaccharidosis, type IVB
Other name(s) Morquio syndrome B
Corresponding gene GLB1
Main clinical features
  • skeletal dysplasia and corneal clouding but not central nervous system involvement and normal intelligence There is increased urinary keratan sulfate excretion
  • severe connective tissue and skeletal deformities without neurologic involvement
  • spondyloepiphyseal dysplasia; radiographic features included flattening of the vertebral bodies and femoral heads, coxa valga, abnormal metacarpal epiphyses, and narrowed phalanges; beta-galactosidase activity was less than 5p100
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/lysosomal
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutations affecting the GLB1 gene and its spliced variant S-GAL with a recruiting defect in elastogenesis
    Remark(s)